Ivacaftor use can lead to dramatic health improvements in cystic fibrosis (CF) patients with gating mutations. Here, we report five instances of dramatic clinical decline following withdrawal of ivacaftor in three individuals with the G551D-CFTR mutation. In each case, the patient's lung function and symptoms rapidly deteriorated after cessation of treatment. Awareness of this phenomenon should inform both clinical practices as well as the design of future clinical trials of highly active CFTR modulators.
- Acute pulmonary exacerbation
- CFTR modulator
- Cystic fibrosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pulmonary and Respiratory Medicine